Galactosialidosis
Name: |
Galactosialidosis
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Description: |
Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
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ORPHAcode: |
351
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Synonyms: |
Goldberg syndrome
Neuraminidase deficiency with beta-galactosidase deficiency
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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